Incidental Mutation 'R7773:Osbpl7'
ID 598721
Institutional Source Beutler Lab
Gene Symbol Osbpl7
Ensembl Gene ENSMUSG00000038534
Gene Name oxysterol binding protein-like 7
Synonyms 4933437E18Rik
MMRRC Submission 045829-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R7773 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 96941459-96959730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96941548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 24 (S24G)
Ref Sequence ENSEMBL: ENSMUSP00000087474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001485] [ENSMUST00000054252] [ENSMUST00000090020] [ENSMUST00000168565]
AlphaFold A2A716
Predicted Effect probably benign
Transcript: ENSMUST00000001485
SMART Domains Protein: ENSMUSP00000001485
Gene: ENSMUSG00000001445

DomainStartEndE-ValueType
low complexity region 66 73 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
low complexity region 202 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054252
SMART Domains Protein: ENSMUSP00000103244
Gene: ENSMUSG00000001445

DomainStartEndE-ValueType
low complexity region 66 73 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090020
AA Change: S24G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534
AA Change: S24G

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
low complexity region 138 154 N/A INTRINSIC
PH 174 270 7.76e-11 SMART
low complexity region 533 551 N/A INTRINSIC
Pfam:Oxysterol_BP 599 947 4.6e-135 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168565
SMART Domains Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534

DomainStartEndE-ValueType
PH 3 99 7.76e-11 SMART
Pfam:Oxysterol_BP 427 776 8.8e-140 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,206,180 (GRCm39) I336T probably benign Het
4930519P11Rik T C 2: 154,455,107 (GRCm39) Y84C unknown Het
4930568D16Rik C T 2: 35,244,606 (GRCm39) G249S probably damaging Het
AAdacl4fm3 A T 4: 144,430,047 (GRCm39) L314Q probably damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agbl1 T A 7: 76,348,585 (GRCm39) V894E unknown Het
Amigo3 T C 9: 107,931,867 (GRCm39) L430P probably benign Het
Aoc1 A G 6: 48,883,146 (GRCm39) I341V probably benign Het
Bod1l A G 5: 41,990,055 (GRCm39) S223P probably benign Het
Cacnb3 T C 15: 98,537,819 (GRCm39) probably null Het
Ccdc63 G T 5: 122,247,335 (GRCm39) N503K probably damaging Het
Ccdc83 T A 7: 89,879,120 (GRCm39) I225F probably damaging Het
Cd200r1 A G 16: 44,610,050 (GRCm39) T90A possibly damaging Het
Cd8a A G 6: 71,350,799 (GRCm39) N88S probably benign Het
Cep170 A G 1: 176,567,642 (GRCm39) V152A Het
Chid1 T C 7: 141,109,518 (GRCm39) M123V probably benign Het
Cnnm4 T C 1: 36,538,603 (GRCm39) V595A probably benign Het
Coro7 A G 16: 4,449,870 (GRCm39) L630P probably damaging Het
Cpvl A G 6: 53,908,890 (GRCm39) probably null Het
Edem3 A T 1: 151,687,347 (GRCm39) K762* probably null Het
Elp6 T A 9: 110,141,627 (GRCm39) probably null Het
Emilin3 A T 2: 160,752,718 (GRCm39) Y77* probably null Het
Fam234b T A 6: 135,220,912 (GRCm39) I641N probably benign Het
Farsa T C 8: 85,590,781 (GRCm39) probably null Het
Foxf2 T C 13: 31,811,182 (GRCm39) S374P probably benign Het
Gm11596 A T 11: 99,683,667 (GRCm39) I151N unknown Het
Gm9817 C T 13: 45,232,427 (GRCm39) Q77* probably null Het
Gon4l A G 3: 88,803,102 (GRCm39) K1238E probably benign Het
H13 A G 2: 152,537,431 (GRCm39) Y292C probably damaging Het
Hip1r A G 5: 124,139,504 (GRCm39) N928S probably benign Het
Iqcf4 T C 9: 106,445,812 (GRCm39) N112D probably benign Het
Jak3 A C 8: 72,131,686 (GRCm39) T125P probably benign Het
Krt7 A C 15: 101,311,913 (GRCm39) K124Q possibly damaging Het
Ldc1 T C 4: 130,114,169 (GRCm39) N83D probably damaging Het
Lrrc66 G A 5: 73,764,664 (GRCm39) S793F probably damaging Het
Mycbp2 C T 14: 103,485,840 (GRCm39) V1074I probably damaging Het
Nckap5 T C 1: 125,954,581 (GRCm39) D657G probably benign Het
Nt5el A G 13: 105,218,793 (GRCm39) I42M probably damaging Het
Or5b113 T A 19: 13,342,598 (GRCm39) V202E probably benign Het
Or8k21 T C 2: 86,145,034 (GRCm39) I199V probably benign Het
Pcm1 G T 8: 41,762,610 (GRCm39) E1385* probably null Het
Poc5 A G 13: 96,547,143 (GRCm39) T469A probably damaging Het
Ppp3ca A G 3: 136,596,222 (GRCm39) T296A probably benign Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Rnf149 A C 1: 39,604,299 (GRCm39) M188R possibly damaging Het
Rpl10l T C 12: 66,331,041 (GRCm39) I31V probably benign Het
Serinc5 T C 13: 92,797,592 (GRCm39) S32P probably damaging Het
Sirt1 T A 10: 63,162,562 (GRCm39) K137M possibly damaging Het
Smc4 A G 3: 68,923,496 (GRCm39) Y251C probably damaging Het
Sod3 A C 5: 52,525,643 (GRCm39) E114A possibly damaging Het
Tgfbr3 A G 5: 107,288,368 (GRCm39) V431A probably benign Het
Tlr4 T C 4: 66,757,836 (GRCm39) S210P probably damaging Het
Trub2 G T 2: 29,676,520 (GRCm39) T70N probably benign Het
Tsga10 A T 1: 37,874,323 (GRCm39) C159S unknown Het
Vmn1r15 A T 6: 57,235,644 (GRCm39) I171F probably benign Het
Vmn2r50 T A 7: 9,771,562 (GRCm39) H713L possibly damaging Het
Zcchc14 T C 8: 122,378,514 (GRCm39) S43G unknown Het
Zfp638 T C 6: 83,956,196 (GRCm39) I1601T probably damaging Het
Other mutations in Osbpl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Osbpl7 APN 11 96,943,126 (GRCm39) missense probably benign 0.00
IGL02041:Osbpl7 APN 11 96,951,334 (GRCm39) missense probably benign 0.08
IGL02322:Osbpl7 APN 11 96,946,950 (GRCm39) missense probably benign 0.18
IGL02396:Osbpl7 APN 11 96,946,377 (GRCm39) missense probably damaging 1.00
IGL02441:Osbpl7 APN 11 96,958,528 (GRCm39) missense probably damaging 1.00
IGL02668:Osbpl7 APN 11 96,958,031 (GRCm39) missense possibly damaging 0.90
IGL03003:Osbpl7 APN 11 96,941,521 (GRCm39) missense probably benign
R0377:Osbpl7 UTSW 11 96,946,760 (GRCm39) missense probably damaging 0.99
R0549:Osbpl7 UTSW 11 96,958,368 (GRCm39) missense probably damaging 1.00
R0848:Osbpl7 UTSW 11 96,951,350 (GRCm39) missense probably damaging 1.00
R0919:Osbpl7 UTSW 11 96,946,927 (GRCm39) missense possibly damaging 0.92
R1845:Osbpl7 UTSW 11 96,949,954 (GRCm39) missense probably damaging 1.00
R2119:Osbpl7 UTSW 11 96,946,905 (GRCm39) missense probably benign 0.02
R2418:Osbpl7 UTSW 11 96,950,004 (GRCm39) missense probably benign 0.00
R2571:Osbpl7 UTSW 11 96,945,667 (GRCm39) missense probably damaging 1.00
R3746:Osbpl7 UTSW 11 96,946,879 (GRCm39) missense probably damaging 1.00
R3747:Osbpl7 UTSW 11 96,946,879 (GRCm39) missense probably damaging 1.00
R3749:Osbpl7 UTSW 11 96,946,879 (GRCm39) missense probably damaging 1.00
R4590:Osbpl7 UTSW 11 96,947,098 (GRCm39) missense probably damaging 1.00
R4602:Osbpl7 UTSW 11 96,947,095 (GRCm39) missense possibly damaging 0.77
R4857:Osbpl7 UTSW 11 96,947,495 (GRCm39) intron probably benign
R4898:Osbpl7 UTSW 11 96,950,976 (GRCm39) missense probably damaging 0.98
R5160:Osbpl7 UTSW 11 96,945,382 (GRCm39) missense probably damaging 1.00
R5292:Osbpl7 UTSW 11 96,958,779 (GRCm39) missense probably benign 0.07
R5685:Osbpl7 UTSW 11 96,951,103 (GRCm39) missense probably damaging 1.00
R5786:Osbpl7 UTSW 11 96,956,658 (GRCm39) missense probably damaging 1.00
R6030:Osbpl7 UTSW 11 96,943,087 (GRCm39) missense probably benign 0.15
R6030:Osbpl7 UTSW 11 96,943,087 (GRCm39) missense probably benign 0.15
R6038:Osbpl7 UTSW 11 96,941,542 (GRCm39) missense probably benign
R6038:Osbpl7 UTSW 11 96,941,542 (GRCm39) missense probably benign
R6239:Osbpl7 UTSW 11 96,943,650 (GRCm39) critical splice donor site probably null
R6715:Osbpl7 UTSW 11 96,945,425 (GRCm39) missense probably damaging 1.00
R6920:Osbpl7 UTSW 11 96,941,584 (GRCm39) missense probably damaging 0.99
R7179:Osbpl7 UTSW 11 96,941,662 (GRCm39) missense probably benign 0.05
R7222:Osbpl7 UTSW 11 96,951,364 (GRCm39) missense probably damaging 1.00
R7413:Osbpl7 UTSW 11 96,945,704 (GRCm39) critical splice donor site probably null
R7806:Osbpl7 UTSW 11 96,946,954 (GRCm39) missense probably benign 0.01
R7884:Osbpl7 UTSW 11 96,951,283 (GRCm39) missense possibly damaging 0.72
R8169:Osbpl7 UTSW 11 96,945,676 (GRCm39) missense probably damaging 1.00
R8289:Osbpl7 UTSW 11 96,947,405 (GRCm39) missense probably benign 0.08
R8341:Osbpl7 UTSW 11 96,950,989 (GRCm39) missense probably damaging 1.00
R8735:Osbpl7 UTSW 11 96,943,194 (GRCm39) missense probably benign
R8738:Osbpl7 UTSW 11 96,946,903 (GRCm39) missense possibly damaging 0.66
X0020:Osbpl7 UTSW 11 96,947,385 (GRCm39) missense probably benign 0.01
X0060:Osbpl7 UTSW 11 96,951,336 (GRCm39) nonsense probably null
X0062:Osbpl7 UTSW 11 96,956,469 (GRCm39) missense probably damaging 0.98
Z1176:Osbpl7 UTSW 11 96,950,979 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTATTTCAGGTGTAATTGAGAGGCAG -3'
(R):5'- TGAGACTGTCTCCGAGTCAC -3'

Sequencing Primer
(F):5'- AGGAAATGGCCTTGAGTGTTCAC -3'
(R):5'- ACCGGCTAGCTCTTCACAG -3'
Posted On 2019-11-26